About: A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency

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About: A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency Goto Sponge Distinct Permalink

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scientific article published on 17 August 2012

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) article scientifique publié en 2012 (fr) наукова стаття, опублікована в серпні 2012 (uk) im August 2012 veröffentlichter wissenschaftlicher Artikel (de) scientific article published on 17 August 2012 (en) artículu científicu espublizáu n'agostu de 2012 (ast)
publication date	wds:Q84824108-18DD6704-A695-4602-8F63-D6B4F8133AF4
publication date	2012-08-17 00:00:00Z (xsd:dateTime)
author name string	wds:Q84824108-6A675518-1011-4B4F-B393-4EC5AB1BC91E wds:Q84824108-EF508B94-3AFF-4EF1-8460-5D730314D54C
author name string	Mohammad M Al-Qattan Ibrahim Al Abdulkareem
rdfs:label	A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency (en) A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency (nl)
skos:prefLabel	A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency (en) A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency (nl)
name	A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency (en) A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency (nl)
author	wds:Q84824108-1009E252-CB80-4FAE-84B0-BEB28CC7B721 wds:Q84824108-36848A35-E65B-4049-BFA2-DA62585B37A8
author	Mohammed Al Balwi Yazeid A Alhaidan
title	wds:Q84824108-48C59B2D-418A-4DE9-A3DD-AF826E94CE99
title	A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency (en)
page(s)	wds:Q84824108-44AB4C4A-2C21-4091-B425-28F5263F0CBE
page(s)	2610-2615
instance of	wds:Q84824108-C1A85C26-7093-404E-A45E-7E0F7482565F
instance of	scholarly article
main subject	wds:Q84824108-277C3DCE-7693-4DDC-9CD0-F5C710EECAE0 wds:Q84824108-4BCAE806-1F9F-4212-9787-2BA8BF7DBB66
main subject	triphalangeal thumb polydactyly
PubMed ID	wds:Q84824108-2E767D8A-CF0A-4035-B0F6-63D7AF96157F
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/22903933
PubMed ID	22903933
published in	wds:Q84824108-F889BF78-A248-40EC-A502-E3114812ED3D
published in	American Journal of Medical Genetics
issue	wds:Q84824108-015B7BB3-8503-4FD4-A11B-A582E2CD5289
volume	wds:Q84824108-3E09A393-3BEA-4107-8713-CEB667F66998
issue	10
volume	158A
DOI	wds:Q84824108-A3D28E3F-3817-41FC-B19C-A6D8C6CD4898
DOI	http://dx.doi.org/10.1002/AJMG.A.35584
DOI	10.1002/AJMG.A.35584
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q84824108
is cites work of	Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome Alterations to the remote control of Shh gene expression cause congenital abnormalities Hox5 interacts with Plzf to restrict Shh expression in the developing forelimb The Genetic Diagnosis of Neurodegenerative Diseases and Therapeutic Perspectives Microduplication of 7q36.3 encompassing the SHH long‑range regulator (ZRS) in a patient with triphalangeal thumb‑polysyndactyly syndrome and congenital heart disease Confirmation of genetic homogeneity of syndactyly type IV and triphalangeal thumb-polysyndactyly syndrome in a Chinese family and review of the literature A multidisciplinary review of triphalangeal thumb Variable expression of subclinical phenotypes instead of reduced penetrance in families with mild triphalangeal thumb phenotypes Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer Variants Zone of Polarizing Activity Regulatory Sequence Mutations/Duplications with Preaxial Polydactyly and Longitudinal Preaxial Ray Deficiency in the Phenotype: A Review of Human Cases, Animal Models, and Insights Regarding the Pathogenesis. SHH Signaling Pathway Drives Pediatric Bone Sarcoma Progression
is cites work of	wds:Q35237812-D84CE35C-CF1A-4452-B01C-171B5A37E7F8 wds:Q57467432-32E36D50-099A-4FE9-BED2-AFFD3621AEBB wds:Q90371322-390FEA67-349D-4FC0-A7C3-13FFF9E9165A wds:Q38116382-44CF1D73-4F93-46BB-BDD0-C76DD56757BA wds:Q55362750-85BAD6BC-40F1-4958-BEF8-3883C2A4F626 wds:Q60956350-C88C4D00-A0FE-4FDE-9559-C8C286378C8A wds:Q37353121-87E4E7D7-1219-47FE-988A-B86D3FC62CC3 wds:Q42155495-1D7DBD80-2CA1-4EE3-8A90-01F1D5D59C65 wds:Q89944036-EF44B0C3-1538-412C-851C-366C930A8AFD wds:Q37719975-C6EE7A64-8E33-46D4-9059-3AFC4079234C wds:Q90310948-E36B7E8D-2DFE-4986-B9A4-5375B1D8F54C

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